Sci Forschen Journal of Neurology and Neurobiology
ISSN 2379-7150
Open HUB for Scientific Researc h
Case Report
Volume: 3.2
Cervical Spinal Cord Compression and Demyelinating Neuropathy Complicating Neurofibromatosis Type 1: About A Case Patrice Ntenga1*, Kabulo K2, Fogang YF1, Bugeme M1, Soumaila Boubacar1, Salaheddine M1, Aboubacar Nahantchi A1, Cisse O1, Diagne NS1, Toure K1,3, Ndiaye M1 and Ndiaye MM1 Neurological Clinic of the National Teaching Hospital-FANN, Dakar, Senegal Department of Neurosurgery, university of Zimbabwe, harare, Zimbabwe 3 Department of Preventive Medicine and Public health, Faculty of Medicine, Pharmacy and Odontostomatology, University of Cheikh Anta Diop, Dakar, Senegal 1 2
Open Access
Received date: 27 Feb 2017; Accepted date: 25 Jul 2017; Published date: 01 Aug 2017. Citation: Ntenga P, Kabulo K, Fogang YF, Bugeme M, Boubacar S, et al. (2017) Cervical Spinal Cord Compression and Demyelinating Neuropathy Complicating Neurofibromatosis Type 1: About A Case. J Neurol Neurobiol 3(2): doi http://dx.doi. org/10.16966/2379-7150.141 Copyright: © 2017 Ntenga P, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
*Corresponding author: Patrice Ntenga, Neurological Clinic of the National Teaching HospitalFANN, Dakar, Senegal, Tel: +221 70 527 00 95; E-mail:
[email protected]
Abstract Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. At least 8 different clinical phenotypes of neurofibromatosis have been identified and are linked to at least two genetic disorders. Neurofibromatosis type I (NF-1) is the most common type of the disease accounting 90% of the cases. Spinal neurofibromas may cause neurologic symptoms by compressing the spinal cord or spinal roots within the foraminal spaces. We report the case of 64 year old male, Senegalese; admitted in June 2016 at the Neurological Clinic of the National Teaching Hospital-FANN, Dakar-Senegal for a syndrome of slow cervical spinal cord compression and a demyelinating neuropathy of both upper and lower limbs. MRI confirmed compression of the sixth and seventh cervical spine segment, which is in favor of a neurofibroma and electroneuromyography showed sensory and motor impairment with slowing of conduction velocities and latencies. The progression was fatal with death after 34 days.
Keywords: Cervical spinal cord compression, Neurofibromatosis type1; Demyelinating neuropathy
Introduction Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. At least 8 different clinical phenotypes of neurofibromatosis have been identified and are linked to at least two genetic disorders. Neurofibromatosis type I (NF-1) is the most common type of the disease accounting 90% of the cases, and is characterized by multiple café-au-lait spots and the occurrence of neurofibromas along peripheral nerves [1]. Neurofibromatosis type 1(NF1) is a common human genetic disease with an incidence of about 1 in 2500-3300 [2]. It is transmitted in the autosomal dominant mode, its gene has been identified on chromosome 17 (17q11.2) [3]. It is usually caused by a mutation in the NF1 gene but about 5-10% of the cases is the result of a micro deletion in 17q11.2 [4]. The prevalence of clinically diagnosed neurofibromatosis1 varies from 1/2000 to 1/5000 in most population studies [5]. NF1 is a multi-visceral disease that affects more than one million people worldwide (more than 80000 in the US) [6]. Neurofibromas can be localized to the peripheral nervous system, skin and skeleton [7]. The neurological manifestations may arise from tumors and malformations of the nervous system, deformities of the skull and skeleton, or pressure by neurofibromas on the peripheral nerves, spinal nerve roots, and spinal cord [8,9]. Spinal neurofibromas may cause neurologic symptoms by compressing the spinal cord or spinal roots within the foraminal spaces. Symptoms may include pain, numbness,
weakness, or bowel/bladder dysfunction. When arising from the nerve root, the tumor grows in a dumbbell-shaped pattern as it passes through the foramen [10].
Case presentation A 64 years old, presented to our outpatient department with one month history of progressive weakness of both upper and lower limbs and one week history of inability to walk, Patient reported also several years’ history of paresthesia of lower limbs associated with urinary incontinence for which he was being followed at a local clinic, his medical history revealed that he was diagnosed of NF1 via tests performed for fibromas observed on his skin at 16 years of Age. There was no history of fever reported and no family history of neurofibromatosis type 1. The patient was haemodynamicaly stable, The physical examination revealed invasive neurofibromas in his body the largest amount being on the trunk and limbs, ranging from a few millimeters to several centimeters in diameter, some of them pedunculated; multiple cafe-au-lait spots with diameter >1,5 cm; axillary and inguinal freckling. There were no visual, auditory or respiratory disorders, power was 3/5 and 1/5 on upper and lower limbs respectively in all muscle groups, reduced sensation bilaterally. The deep tendon reflexes (DTR) of the upper and lower extremities were brisk (4+), Hoffmann reflex was bilateral positive, and there was also dorsal scoliosis. The performed magnetic resonance imaging (MRI) for spinal cord revealed neurofibromas that filled bilateral neural foramina at lower cervical region and upper thoracic and increased T2 signaling compatible
Copyright: © 2017 Ntenga P, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Sci Forschen Open HUB for Scientific Researc h
with myelomalacia causing a thinning of spinal cord at the level of cervicomedullar region and C6-C7 and a dorsal cyphoscoliosis. An electroneuromyographic examination (ENMG) was carried out and showed demyelinating peripheral neuropathy and slowing of conduction velocities and latencies. The patient was admitted and had benefited from functional rehabilitation, and symptomatic treatment. A surgical resection of the spinal neurofibroma responsible for cervical spinal cord compression was planned but could not be carried out for economic reasons. Then the patient deteriorated and died 34 days after admission (Figure 1).
Discussion The association of cervical spinal cord compression and demyelinating polyneuropathy during neurofibromatosis is rare [11]. Our case is about cervical spinal cord compression associated with demyelinating polyneuropathy in neurofibromatosis type 1 patient. Demyelinating polyneuropathies are rare in NF1, with a frequency of 2.3% in one of the largest series of the literature, a study done by Alain Drouet at al. [12] showed that There was a strong association between the presence of a peripheral neuropathy and large root diffuse neurofibromas (P
